hrp0086p1-p473 | Fat Metabolism and Obesity P1 | ESPE2016

Inherited Duplication (X) (p11.4) Associated with Obesity, Autoaggressive Behaviour and Delayed Speech Development

Doeing Carsten , Rahner Nils , Kummer Sebastian , Meissner Thomas , Mayatepek Ertan

Background: Obesity is a major feature in several syndromes. In patients with early-onset severe obesity, 7% harbour a single locus mutation.Objective and hypotheses: We report a 3.11 year old male patient with early onset obesity (BMI 29.9 kg/m2 >>P97), ongoing excessive weight gain, autoaggressive behaviour, and delayed speech development. No growth retardation or further dysmorphic signs. Early postnatal feeding difficulties require...

hrp0084p1-23 | Diabetes | ESPE2015

Safety and Efficacy of Treatment with Long-Acting Lanreotide Autogel® in Early Infancy in Patients with Congenital Hyperinsulinism

Corda Heike , Meissner Thomas , Kummer Sebastian , Welters Alena , Teig Norbert

Background: Long-acting somatostatin analogues have been reported to be an effective treatment option to prevent severe hypoglycaemia in children with severe diffuse congenital hyperinsulinism (CHI). Possible side effects include gallstones, growth retardation and necrotizing enterocolitis (NEC), the latter occurring in particular cases of newborns treated with octreotide. So far only short-acting octreotide is being used in early infancy, requiring multiple injections daily o...

hrp0084p3-1083 | Hypo | ESPE2015

Cholestatic Hepatopathy and Hypoglycaemic Seizures as Primary Manifestation of Hypocortisolism in Infancy

Saupp Peter , Fried Michael , Bergmann Carsten , Meissner Thomas , Kummer Sebastian

Background: Cholestatic hepatopathy is a rare but serious threat to neonates and young infants. Their immature hepatic excretory function predisposes for severe and rapidly progressive hepatic injury. Because of the wide range of possible etiologies, it is often difficult to make an accurate diagnosis. One rare endocrine cause can be primary or secondary hypocortisolism.Case presentation: i) A 7-week-old term-born female with cholestasis, elevated liver ...

hrp0092p1-204 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) (1) | ESPE2019

Risk Factors for Brain Injury After Transient or Persistent Hyperinsulinemic Hypoglycemia in Neonates

Roeper Marcia , Dafsari Roschan Salimi , Kummer Sebastian , Klee Dirk , Mayatepek Ertan , Sabir Hemmen , Meissner Thomas

Background: Aim of this study was to identify possible explanations why despite improved treatment options brain damage still occurs in neonates with transient or persistent hyperinsulinism. This study might serve as a basis for future research to improve the management of neonatal hypoglycemia reducing brain injury in these children.Material and Methods: A retrospective medical chart review was conducted at the Universi...

hrp0092p2-20 | Adrenals and HPA Axis | ESPE2019

Polydipsia, Hyponatremia and a Biochemical Profile of Aldosterone Synthase Deficiency

Reinauer Christina , Förtsch Katharina , Meissner Thomas , Mayatepek Ertan , Holterhus Paul Martin , Kummer Sebastian

Background: Aldosterone synthase deficiency (ASD) is caused by biallelic inactivating CYP11B2 variants. Infants mainly present with failure to thrive and salt wasting in early infancy. Moreover, different factors may cause downregulation of aldosterone synthase and secondary deficiency.Objective and Hypotheses: We present a toddler with polyuria and polydipsia and steroid hormone precursors suggestive of ASD, bu...

hrp0086p2-p57 | Adrenal P2 | ESPE2016

False-Positive Increases of Steroid Hormone Precursors Mimicking 11β-Hydroxylase-Deficiency in a Preterm Infant

Welters Alena , Roschinger Wulf , Franzel Julia , Sabir Hemmen , Mayatepek Ertan , Meissner Thomas , Kummer Sebastian

Background: In premature and small-for-date infants, immature adrenal enzyme activity, adrenal stress responses and impaired hepatic clearance may lead to mild to moderate false-positive increases of steroid hormone precursors. This complicates screening programs for congenital adrenal hyperplasia (CAH) in these patients.Objective and hypotheses: We present a preterm female infant (born at 33 weeks of gestation) who’s newborn screening 55 h after bi...

hrp0086p1-p195 | Diabetes P1 | ESPE2016

Two Patients with HADH (SCHAD) Hyperinsulinism without Detectable 3-Hydroxybutyrylcarnitine/3-Hydroxyglutarate

Weiss Susanne , Bachmann Nadine , Mayatepek Ertan , Meissner Thomas , Bergmann Carsten , Kummer Sebastian

Background: Congenital hyperinsulinism of infancy (CHI) is the most common cause for persisting hypoglycaemia in infancy. Genetic causes are mutations in ABCC8 or KCNJ11 (coding for K+ATP-channel subunits), less frequently mutations in GCK or GLUD1. Further genetic examinations are usually performed only if phenotypic aspects point to other specific genes, such as the rare short chain 3-hydroxylacyl-CoA dehydrogenase (<...

hrp0086p1-p210 | Diabetes P1 | ESPE2016

Screening for Liver Disease in Children and Adolescents with Type 1 Diabetes Mellitus: A Cross-sectional Analysis

Kummer Sebastian , Klee Dirk , Kircheis Gerald , Friedt Michael , Schaper Joerg , Haussinger Dieter , Mayatepek Ertan , Meissner Thomas

Background: The liver is one of the most important organs in glucose metabolism and closely related to diabetes pathophysiology. Non-alcoholic fatty liver disease (NAFLD) is well known in type 2 diabetes mellitus (DM), but also adult patients with type 1 DM are at increased risk for NAFLD.Objective and hypotheses: Here, we studied the prevalence of liver disease in a representative number of children and adolescents with type 1 DM in Germany.<p class...

hrp0086p1-p697 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Contiguous Gene Syndrome Involving DAX1 Deletion with Congenital Adrenal Insufficiency

Dafsari Roschan Salimi , Haas Dorothea , Leube Barbara , Eichhorn Joachim G. , Mayatepek Ertan , Meissner Thomas , Kummer Sebastian

Background: In contrast to monogenic diseases, contiguous gene syndrome (CGS) describes a clinical phenotype caused by a deletion or duplication of several neighbouring genes. Angelman or Williams-Beuren syndrome are examples demonstrating that deletion of several adjacent genes causes a complex clinical syndrome. However, CGS are very rare events in pediatric endocrinology, and require knowledge of clinical associations pointing towards specific potentially affected genes in ...

hrp0084p2-492 | Hypo | ESPE2015

Syndromic Hypoketotic, Hypoinsulinemic Hypoglycaemia due to a Mosaic Activating Phosphatidylinositol 3-Kinase Mutation

Kummer Sebastian , Leiter Sarah M , Welters Alena , Barroso Ines , Meissner Thomas , Semple Robert K

Background: In contrast to hypoglycaemia due to congenital hyperinsulinism, there are patients with a similar metabolic profile of hypoketotic hypoglycaemia, but low insulin levels and relatively low glucose requirements to maintain euglycaemia. So far, four patients with activating mutations in the insulin signal-transducing kinase AKT2 have been described, each also showing a syndromic phenotype including hemihypertrophy.Objective and hypotheses: We pr...